11/14/24, 10\:36 AM Autism Spectrum Disorder (ASD)
Autism Spectrum Disorder (ASD)
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Autism spectrum disorder (ASD)\: neuro-developmental disorder with abnormal social interaction, communication, and
repetitive behaviours; 4x more common in boys; 1 in 100 in the UK.
Asperger syndrome\: part of ASD; absence of intellectual/functional language impairment.
Aetiology\: no clear cause; linked to conditions like infantile spasms, congenital rubella, tuberous sclerosis, Fragile X
syndrome.
Risk factors\: male sex, family history, genetic variants (PTEN, MeCP, CNV), chromosomal abnormalities.
Clinical features\: impaired social interaction (e.g., lack of response to emotions, unable to interpret social cues and inability
to form social attachments). Communication issues (e.g., delayed speech, impairment in fantasy play, lack of social
gestures, conversational skills tend to be one way). Repetitive behaviours (e.g., rigid routines, preoccupations with speci
interests and inability to adapt to new environments).
Comorbidities\: epilepsy (20-30%), ADHD (50%).
Investigations\: clinical assessment, observable features in all environments from early childhood; tools like DISCO, ADOS.
Management\: early intervention, specialist education, therapies (occupational, speech, clinical psychology), sleep hygiene;
SSRIs for depression/anxiety, melatonin for sleep di
Complications\: social isolation, bullying, educational/employment problems, inability to live independently.
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A comprehensive topic overview
Introduction
Autism spectrum disorder (ASD) is a neuro-developmental disorder characterised by abnormal social interaction,
communication and restricted, repetitive behaviours. ASD is four times more prevalent in boys than girls. 1
In the UK, 1 in
100 people are considered to be on the autistic spectrum.
2
There are other names used for ASD such as childhood autism or Asperger syndrome. Asperger syndrome is now referred
to as autism spectrum disorder; however, it is characterised by the absence of intellectual impairment and/or
impairment of functional language.
Aetiology
In most cases, there is no identi
These include\:
Infantile spasms
Congenital rubella
Tuberous sclerosis
Fragile X syndrome
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Risk factors
Risk factors for ASD include\:
Male sex
Family history
Genetic variants such as PTEN, MeCP and several submicroscopic copy number variants (CNV)
Chromosomal abnormalities
Clinical features
Typical features of ASD can be classed into three categories\: social interaction, communication and restricted, repetitive
behaviours.
Social interaction
Patient's may exhibit the following social features\:
Lack of response to other people’s emotions
Unable to interpret social cues
Inability to form social attachments
Communication
Patient’s may exhibit the following communication features\:
Usually delayed or minimal expressive speech
Impairment in make-believe or fantasy play
Lack of social gestures
Conversational skills tend to be one-way (monologues, endless questions etc…)
Restricted, repetitive behaviours
Patient's may exhibit the following behaviours\:
The tendency to resist change with a rigid daily routine
Preoccupations with speci
Inability to adapt to new environments
In addition to ASD, there are many conditions which have increased prevalence in people with ASD (Figure 1). For example,
20-30% of patients will also have epilepsy and around half will have a concomitant diagnosis of attention de
hyperactivity disorder (ADHD).
3,4
Figure 1. The prevalence of comorbidities of patients with ASD.
5,6
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Di
Di
Global developmental delay\: delay occurring in all areas of development, not just social/communication
ADHD\: di
Investigations
A diagnosis of ASD is based on clinical assessment with de
These features must be observable in all environments that are su
They should have been present from early childhood but may not be fully evident until later when social demands exceed
capabilities.
There are several formal diagnostic tools for ASD, including Diagnostic Interview for Social and Communication Disorders
(DISCO) and Autism Diagnostic Observation Schedule (ADOS).
Management
There is no cure for ASD, but the goal of treatment is to improve day-to-day functional ability and optimise the quality of
life. Interventions may need to evolve over time as the needs of the patient evolve with age.
Early intervention in pre-school years is preferable as it can help children learn critical social, communication, functional
and behavioural skills. Behavioural problems may become particularly challenging during the teenage years.
Non-pharmacological therapy
There is a wide range of non-pharmacological support that may be helpful depending on the patient’s needs\:
Specialist education
Occupational therapy
Speech therapy
Clinical psychology
Sleep hygiene
Care agencies
Pharmacological therapy
There are no speci
from behavioural and pharmacological intervention (e.g. SSRIs).
In addition, children with sleep di
hygiene proved to be unsuccessful.
Practical tips for approaching autistic patients in hospital/appointments
Managing patients with ASD clinic/hospital can seem a daunting task however the most important thing you can do is to try
to put the patient at ease and engage them in their care.
Firstly, try not to have too many people in the room as this may be overwhelming, having a member of sta
present may be helpful.
Try to
one patient may be non-verbal whereas another may be able to hold a full conversation. Some patients may use
pictures/symbols to communicate so it may be useful to ask a parent/carer to bring some with them. Use clear, direct
literal language without any turns of phrase or sarcasm that may be misconstrued.
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Another important thing to remember is autistic children grow up into autistic adults. Being in the hospital may be a very
stressful time for anyone but particularly patients with ASD. The sudden change to an unfamiliar chaotic environment can
trigger high levels of stress and anxiety which may convert into challenging behaviour. Having a highly structured clear
routine can help ease some of this, it may help to follow a now and next pattern i.e. now it’s breakfast, next you will see the
doctor. Also, enabling company of people they trust is vital to help reduce stress and calm behaviours.
Complications
There are several ‘complications’ or challenges that patients with ASD may face personally and interpersonally, including\:
Social isolation
Bullying and victimisation
Problems in education
Problems with employment
Inability to live independently
References
I C D-1 1 . Published in 2020. Available from\: [LINK]
National Autistic Society. W h a t i s A u t i s m ? Published in 2020. Available from\: [LINK]
BMJ Best Practice. A u t i s m S p e c t r u m D i s o r d e r . Published in 2018. Available from\: [LINK]
The Lancet Psychiatry. Available from\: [LINK]
A D H D i n c h i l d r e n a n d y o u n g p e o p l e \: p r e v a l e n c e , c a r e p a t h w a y s , a n d s e r v i c e p r o v i s i o n . Published in
Kohane et al. T h e C o-M o r b i d i t y B u r d e n o f C h i l d r e n a n d Y o u n g A d u l t s w i t h A u t i s m S p e c t r u m D i s o r d e r s . Available from\: [LINK]
Published in 2012.
Ganizadeh, A. C o-m o r b i d i t y a n d f a c t o r a n a l y s i s o n a t t e n t i o n d e
D S M-I V -d e r i v e d i t e m s . Published in 2012. Available from\: [LINK]
Reviewer
Dr Lesley Henderson
Consultant Community Paediatrician
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Contents
Introduction
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Aetiology
Risk factors
Clinical features
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